D-Index & Metrics Best Publications

Jean-Pierre Fryns

KU Leuven
Belgium

Genetics

Belgium

2023

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Medicine D-index 86 Citations 26,421 963 World Ranking 9188 National Ranking 105

Genetics D-index 86 Citations 24,997 735 World Ranking 805 National Ranking 8

Research.com Recognitions

Awards & Achievements

2023 - Research.com Genetics in Belgium Leader Award

Overview

What are the main themes of his work throughout his whole career to date

His Genetics study frequently draws connections between adjacent fields such as Linkage (software). His work on Linkage (software) is being expanded to include thematically relevant topics such as Genetics. His research links DNA with Ataxia-telangiectasia. In his research, Jean-Pierre Fryns performs multidisciplinary study on DNA and DNA damage. His studies link Ataxia-telangiectasia with DNA damage. Much of his study explores Paleontology relationship to Test (biology). Test (biology) is closely attributed to Paleontology in his work. He brings together Chromosome and Centromere to produce work in his papers. Jean-Pierre Fryns merges Centromere with Chromosome in his study.

Jean-Pierre Fryns most often published in these fields:

Genetics (66.67%)
Ataxia-telangiectasia (33.33%)
Paleontology (33.33%)

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Frédéric Laumonnier;Frédérique Bonnet-Brilhault;Marie Gomot;Romuald Blanc.
American Journal of Human Genetics (2004)

873 Citations

CHROMOSOME INSTABILITY IS COMMON IN HUMAN CLEAVAGE-STAGE EMBRYOS

Evelyne Vanneste;Thierry Voet;Cédric Le Caignec;Cédric Le Caignec;Michèle Ampe.
Nature Medicine (2009)

848 Citations

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Hilde Van Esch;Marijke Bauters;Jaakko Ignatius;Mieke Jansen.
American Journal of Human Genetics (2005)

641 Citations

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

P Billuart;T Bienvenu;N Ronce;des Portes.
Nature (1998)

590 Citations

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

P B Munroe;R O Olgunturk;Jean-Pierre Fryns;L Van Maldergem.
Nature Genetics (1999)

501 Citations

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Alexandre Irrthum;Koenraad Devriendt;David Chitayat;Gert Matthijs.
American Journal of Human Genetics (2003)

457 Citations

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

Ann Swillen;Koenraad Devriendt;Eric Legius;Benedicte Eyskens.
Journal of Medical Genetics (1997)

404 Citations

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser.
American Journal of Human Genetics (2005)

383 Citations

The annual incidence of DiGeorge/velocardiofacial syndrome.

Koenraad Devriendt;Jean-Pierre Fryns;Jean-Pierre Fryns;Geert Mortier;M N van Thienen.
Journal of Medical Genetics (1998)

381 Citations

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler.
American Journal of Human Genetics (2003)

378 Citations

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